Variant report

Variant	esv3338064
Chromosome Location	chr5:107716078-107718926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:107717923-107718429	K562	blood:	n/a	n/a
2	ARID3A	chr5:107717239-107717244	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:107715451-107716224	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:107717768-107718442	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:107715842-107716195	K562	blood:	n/a	n/a
6	ATF1	chr5:107717901-107718554	K562	blood:	n/a	n/a
7	ATF2	chr5:107717546-107718945	GM12878	blood:	n/a	n/a
8	ATF2	chr5:107717907-107718336	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:107717812-107718688	GM12878	blood:	n/a	n/a
10	ATF2	chr5:107717847-107718362	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:107716180-107716691	GM12878	blood:	n/a	n/a
12	ATF3	chr5:107717647-107718420	A549	lung:	n/a	chr5:107718092-107718105 chr5:107717778-107717787 chr5:107718093-107718103
13	BACH1	chr5:107717727-107718392	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr5:107718011-107718378	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:107718074-107718297	GM12878	blood:	n/a	chr5:107718134-107718147
16	BCL11A	chr5:107717867-107718444	GM12878	blood:	n/a	chr5:107718134-107718147 chr5:107717884-107717897
17	BCL3	chr5:107717590-107718627	A549	lung:	n/a	chr5:107717772-107717785 chr5:107717718-107717731 chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717697-107717710 chr5:107717884-107717897
18	BCL3	chr5:107717470-107718506	GM12878	blood:	n/a	chr5:107717772-107717785 chr5:107717718-107717731 chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717697-107717710 chr5:107717884-107717897
19	BCL3	chr5:107716191-107716684	GM12878	blood:	n/a	chr5:107716623-107716636
20	BCL3	chr5:107717823-107718853	A549	lung:	n/a	chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717884-107717897
21	BCLAF1	chr5:107717545-107719214	GM12878	blood:	n/a	chr5:107717772-107717785 chr5:107717718-107717731 chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717697-107717710 chr5:107717884-107717897
22	BCLAF1	chr5:107716928-107717520	GM12878	blood:	n/a	chr5:107717453-107717466 chr5:107717132-107717145 chr5:107717280-107717293 chr5:107717044-107717057 chr5:107716940-107716953 chr5:107717307-107717320 chr5:107716942-107716955 chr5:107717134-107717143
23	BCLAF1	chr5:107717319-107718870	GM12878	blood:	n/a	chr5:107717453-107717466 chr5:107717772-107717785 chr5:107717718-107717731 chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717697-107717710 chr5:107717884-107717897
24	BCLAF1	chr5:107716161-107716675	GM12878	blood:	n/a	chr5:107716623-107716636
25	BHLHE40	chr5:107717380-107718531	HepG2	liver:	n/a	chr5:107717552-107717568 chr5:107717447-107717463 chr5:107717831-107717847 chr5:107717771-107717787 chr5:107717560-107717576
26	BHLHE40	chr5:107716207-107716584	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:107717037-107718942	K562	blood:	n/a	chr5:107717552-107717568 chr5:107717247-107717263 chr5:107717308-107717324 chr5:107717447-107717463 chr5:107717831-107717847 chr5:107717085-107717101 chr5:107717771-107717787 chr5:107717560-107717576 chr5:107717039-107717055
28	BHLHE40	chr5:107717305-107718951	GM12878	blood:	n/a	chr5:107717552-107717568 chr5:107717308-107717324 chr5:107717447-107717463 chr5:107717831-107717847 chr5:107717771-107717787 chr5:107717560-107717576
29	BRCA1	chr5:107717878-107718250	HepG2	liver:	n/a	n/a
30	BRCA1	chr5:107717635-107718253	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr5:107718013-107718358	K562	blood:	n/a	n/a
32	CBX3	chr5:107717413-107718704	K562	blood:	n/a	chr5:107718536-107718547
33	CCNT2	chr5:107716315-107718569	K562	blood:	n/a	chr5:107716347-107716356 chr5:107716353-107716362 chr5:107716783-107716792 chr5:107716666-107716675
34	CEBPB	chr5:107717488-107718360	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:107717989-107718434	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr5:107717867-107718474	IMR90	lung:	n/a	n/a
37	CEBPB	chr5:107717922-107718455	HepG2	liver:	n/a	n/a
38	CEBPB	chr5:107717807-107718923	GM12878	blood:	n/a	n/a
39	CEBPB	chr5:107718045-107718449	K562	blood:	n/a	n/a
40	CEBPD	chr5:107718079-107718401	HepG2	liver:	n/a	n/a
41	CEBPD	chr5:107718011-107718405	HepG2	liver:	n/a	n/a
42	CEBPD	chr5:107717426-107718004	HepG2	liver:	n/a	n/a
43	CEBPD	chr5:107717013-107717321	HepG2	liver:	n/a	n/a
44	CHD1	chr5:107716837-107717009	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr5:107716901-107718447	GM12878	blood:	n/a	chr5:107718041-107718051
46	CHD1	chr5:107717337-107717872	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr5:107715480-107719183	IMR90	lung:	n/a	chr5:107716684-107716694 chr5:107718041-107718051
48	CHD2	chr5:107716281-107716343	HepG2	liver:	n/a	n/a
49	CHD2	chr5:107717439-107718580	HepG2	liver:	n/a	chr5:107718041-107718051
50	CHD2	chr5:107716839-107718706	GM12878	blood:	n/a	chr5:107718041-107718051

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:107717310-107717360	SKMC	muscle:	n/a
2	chr5:107717310-107717360	SKMC	muscle:	n/a
3	chr5:107717972-107718022	HCT-116	colon:	n/a
4	chr5:107717310-107717360	Hepatocyte	liver:	n/a
5	chr5:107718043-107718093	AG09319	gingival:	n/a
6	chr5:107717630-107717680	NH-A	brain:	n/a
7	chr5:107718043-107718093	PrEC	prostate:	n/a
8	chr5:107718043-107718093	BJ	skin:	n/a
9	chr5:107716468-107716518	BJ	skin:	n/a
10	chr5:107716890-107716940	HCM	heart:	n/a
11	chr5:107717975-107718025	Jurkat	blood:	n/a
12	chr5:107717975-107718025	HEEpiC	esophagus:	n/a
13	chr5:107716890-107716940	ECC-1	luminal epithelium:	n/a
14	chr5:107718300-107718350	AoSMC	blood vessel:	n/a
15	chr5:107717310-107717360	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:107717972-107718022	NB4	blood:	n/a
17	chr5:107717965-107718015	LNCaP	prostate:	n/a
18	chr5:107717310-107717360	BE2_C	brain:	n/a
19	chr5:107716468-107716518	IMR90	lung:	fetal
20	chr5:107718043-107718093	ECC-1	luminal epithelium:	n/a
21	chr5:107717975-107718025	ProgFib	skin:	n/a
22	chr5:107717310-107717360	NHDF-neo	bronchial:	n/a
23	chr5:107717975-107718025	MCF10A-Er-Src	breast:	n/a
24	chr5:107718043-107718093	AG10803	skin:	n/a
25	chr5:107718043-107718093	Hela-S3	cervix:	n/a
26	chr5:107716890-107716940	BE2_C	brain:	n/a
27	chr5:107717965-107718015	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:107717965-107718015	NT2-D1	testis:	n/a
29	chr5:107718300-107718350	RPTEC	kidney:	n/a
30	chr5:107717630-107717680	HEK293	kidney:	embryo
31	chr5:107717630-107717680	IMR90	lung:	fetal
32	chr5:107717630-107717680	HCF	heart:	n/a
33	chr5:107718043-107718093	Hepatocyte	liver:	n/a
34	chr5:107717975-107718025	AG04449	skin:	fetal
35	chr5:107717965-107718015	CMK	blood:	n/a
36	chr5:107716890-107716940	PANC-1	pancreas:	n/a
37	chr5:107717630-107717680	HEEpiC	esophagus:	n/a
38	chr5:107716890-107716940	PrEC	prostate:	n/a
39	chr5:107717310-107717360	Caco-2	colon:	n/a
40	chr5:107717630-107717680	HCT-116	colon:	n/a
41	chr5:107717975-107718025	HCF	heart:	n/a
42	chr5:107717630-107717680	HRPEpiC	eye:	n/a
43	chr5:107717310-107717360	HEEpiC	esophagus:	n/a
44	chr5:107717630-107717680	HAEpiC	amniotic membrane:	n/a
45	chr5:107717972-107718022	Jurkat	blood:	n/a
46	chr5:107717975-107718025	HepG2	liver:	n/a
47	chr5:107717630-107717680	AG04449	skin:	fetal
48	chr5:107717965-107718015	HEK293	kidney:	embryo
49	chr5:107717965-107718015	GM06990	blood:	n/a
50	chr5:107717310-107717360	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:107700359..107701872-chr5:107716648..107719223,2	MCF-7	breast:
2	chr5:107716823..107717792-chr5:150536829..150537518,2	HCT-116	colon:
3	chr5:107716332..107718020-chr5:108743767..108745562,2	MCF-7	breast:
4	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
5	chr5:107717666..107718463-chr8:67974307..67975194,2	NB4	blood:
6	chr5:107717885..107718650-chr9:2014848..2015524,2	NB4	blood:
7	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:
8	chr17:56707838..56709408-chr5:107717077..107719444,2	MCF-7	breast:
9	chr12:53845689..53846348-chr5:107717435..107718408,2	Hela-S3	cervix:
10	chr5:104726534..104729492-chr5:107716153..107718681,2	K562	blood:
11	chr19:18496936..18497493-chr5:107717910..107718500,2	HCT-116	colon:
12	chr5:107693754..107695689-chr5:107714400..107716161,2	K562	blood:
13	chr5:107715063..107717038-chr5:110074735..110077588,2	K562	blood:
14	chr2:85766264..85769158-chr5:107716614..107718992,2	MCF-7	breast:
15	chr1:11968697..11971206-chr5:107717145..107718846,2	MCF-7	breast:
16	chr3:64105488..64107336-chr5:107718780..107720666,2	MCF-7	breast:
17	chr5:107717195..107717792-chr6:27098236..27098991,2	Hela-S3	cervix:
18	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:
19	chr17:60704450..60704981-chr5:107716389..107717318,2	NB4	blood:
20	chr12:49524532..49525108-chr5:107717478..107718091,2	Hela-S3	cervix:
21	chr5:107717757..107719316-chr5:108082854..108085189,2	MCF-7	breast:
22	chr11:70049260..70050058-chr5:107717800..107718789,2	NB4	blood:
23	chr5:107717243..107719303-chr5:108745580..108747696,2	MCF-7	breast:
24	chr13:68904844..68905419-chr5:107718310..107718870,2	MCF-7	breast:
25	chr5:107699675..107702509-chr5:107715943..107717724,2	K562	blood:
26	chr17:8076579..8077271-chr5:107717045..107717954,2	Hela-S3	cervix:
27	chr17:61627012..61627680-chr5:107717870..107718550,2	NB4	blood:
28	chr5:102896315..102898883-chr5:107715677..107718329,2	K562	blood:
29	chr12:120729283..120730124-chr5:107716642..107717534,2	Hela-S3	cervix:
30	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-2	chr5:107717871-107718109	NONHSAT103121
2	lnc-FER-2	chr5:107717801-107724211	NONHSAT103120

Variant related genes	Relation type
FBXL17	TF binding region
FBXL17	CpG island
ENSG00000264175	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000104218	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000145743	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000168040	chromatin interactions
ENSG00000251574	chromatin interactions
ENSG00000121022	chromatin interactions
ENSG00000198961	chromatin interactions
ENSG00000011028	chromatin interactions
ENSG00000197043	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000164209	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000112874	chromatin interactions
ENSG00000080503	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73781345	chr5:107716089-107716090	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184132670	chr5:107716090-107716091	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs559759428	chr5:107716092-107716093	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528505425	chr5:107716098-107716099	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148636130	chr5:107716133-107716134	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571812367	chr5:107716134-107716135	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531025994	chr5:107716158-107716159	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs550825178	chr5:107716174-107716175	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs567442338	chr5:107716175-107716176	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs536026158	chr5:107716183-107716184	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs553255369	chr5:107716189-107716190	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189249386	chr5:107716190-107716191	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs538257424	chr5:107716222-107716223	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558119703	chr5:107716279-107716280	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs575041975	chr5:107716286-107716287	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs543882181	chr5:107716318-107716319	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs557164541	chr5:107716319-107716320	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs574190177	chr5:107716353-107716354	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs542822667	chr5:107716360-107716361	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs200545265	chr5:107716411-107716412	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs34305758	chr5:107716422-107716423	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs181640820	chr5:107716481-107716482	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs545468228	chr5:107716535-107716536	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs565260379	chr5:107716560-107716561	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs531064681	chr5:107716607-107716608	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs551111236	chr5:107716668-107716669	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs567626142	chr5:107716897-107716898	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs529903704	chr5:107717059-107717060	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs546438342	chr5:107717072-107717073	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs566797903	chr5:107717088-107717089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs538541501	chr5:107717110-107717111	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs186842274	chr5:107717246-107717247	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs568497997	chr5:107717249-107717250	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs368337366	chr5:107717268-107717269	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs554669040	chr5:107717278-107717279	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs115841740	chr5:107717293-107717294	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs536861617	chr5:107717305-107717306	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs553289469	chr5:107717313-107717314	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs573512020	chr5:107717453-107717454	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs192040712	chr5:107717464-107717465	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs565546324	chr5:107717521-107717522	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs575730537	chr5:107717527-107717528	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs544571164	chr5:107717574-107717575	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs561444704	chr5:107717616-107717617	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs530129653	chr5:107717630-107717631	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs374988658	chr5:107717637-107717638	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs560067119	chr5:107717654-107717655	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs532307478	chr5:107717655-107717656	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs10075272	chr5:107717685-107717686	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568780441	chr5:107717694-107717695	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107708600-107716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:107714200-107716800	Active TSS	Right Atrium	heart
3	chr5:107714200-107718200	Active TSS	Fetal Brain Female	brain
4	chr5:107714200-107718600	Active TSS	GM12878-XiMat	blood
5	chr5:107714400-107718400	Active TSS	Brain Cingulate Gyrus	brain
6	chr5:107714400-107718600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:107714600-107716200	Weak transcription	Gastric	stomach
8	chr5:107714800-107716200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:107714800-107716400	Active TSS	Fetal Heart	heart
10	chr5:107715000-107716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:107715000-107716400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:107715000-107716600	Flanking Active TSS	Dnd41	blood
13	chr5:107715000-107717000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:107715000-107718800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:107715000-107719000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:107715000-107719000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:107715200-107716200	Flanking Active TSS	Osteobl	bone
18	chr5:107715200-107716400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr5:107715200-107718200	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr5:107715200-107718400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:107715200-107718600	Active TSS	NHLF	lung
22	chr5:107715400-107716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:107715400-107718400	Active TSS	Fetal Stomach	stomach
24	chr5:107715400-107718600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:107715400-107718600	Active TSS	Aorta	Aorta
26	chr5:107715400-107719000	Active TSS	Psoas Muscle	Psoas
27	chr5:107715400-107719200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:107715600-107716200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr5:107715600-107716200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr5:107715600-107716200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr5:107715600-107716200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:107715600-107716200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr5:107715600-107716200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:107715600-107716200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr5:107715600-107716200	Flanking Active TSS	Liver	Liver
36	chr5:107715600-107716200	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr5:107715600-107716200	Enhancers	Stomach Mucosa	stomach
38	chr5:107715600-107716200	Flanking Active TSS	HUVEC	blood vessel
39	chr5:107715600-107716400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr5:107715600-107716400	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr5:107715600-107716400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr5:107715600-107716400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:107715600-107716400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr5:107715600-107716400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr5:107715600-107716600	Flanking Active TSS	Fetal Thymus	thymus
46	chr5:107715600-107718200	Active TSS	K562	blood
47	chr5:107715600-107718400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:107715600-107718400	Active TSS	Brain Germinal Matrix	brain
49	chr5:107715600-107718400	Active TSS	HSMMtube	muscle
50	chr5:107715600-107718600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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